Pseudohypoparathyroidism mimicking cervical diffuse idiopathic skeletal hyperostosis with dysphagia: A case report and literature review.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 34381851.
- Also identified by DOI 10.1016/j.bonr.2021.101111 and PMC identifier 8339251.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
Dysphagia due to extensive ossification at anterior segments of the cervical spine is a rare occurrence and is usually attributable to diffuse idiopathic skeletal hyperostosis (DISH). We present the case of a 74-year-old female with dysphagia most likely due to ossification in pseudohypoparathyroidism type 1a (PHP1a). PHP1a is a rare, autosomal dominant disorder caused by mutations in the GNAS1 gene. Our patient had characteristic phenotype features of PHP1a, also known as Albright's hereditary osteodystrophy (AHO), which was diagnosed without genetic confirmation. She was conservatively treated with dietary measures and observation, and reported persisting symptoms of dysphagia at six-month follow-up. This is the first case to describe dysphagia in PHP1a with a similar presentation to DISH.